Fragile X Syndrome

Fragile X syndrome is one of the most frequently diagnosed conditions of inherited intellectual and developmental disabilities, commonly referred to as IDD. It is a genetic condition which involves various changes in parts of the X chromosome. It is a common type of inherited mental retardation diagnosed in males and slightly less frequently among females.

When there is a mutation or change in the gene called the Fragile X Mental Retardation1 (FMR1), Fragile X will occur. The FMR1 gene produces a protein which is needed by the body in order for the brain to develop properly. If the body does not produce enough of the protein or produces none at all, Fragile X syndrome will develop. It is possible that only a small mutation of the FMR1 gene takes place, in which case the person may not show any symptoms of Fragile X. This condition is called permutation. If, however, a larger mutation takes place, the symptoms of Fragile X will be much more severe. This condition is known as full mutation.

Fragile X is an inherited condition passed down from parent to child. It is possible for parents who do not have Fragile X to have children who will have it. The degree of impairment can range from minor learning disabilities to a severe level of mental retardation. It is the most frequently observed single gene cause of autism. Some of the symptoms are difficulty in language and speech development, physical impairment and behavioral problems.

Fragile X syndrome occurs when there a change in the gene code of the FMR1 gene. Genes normally occur in pairs and serve as the factors that determine development, growth, eye color, hair color, blood type etc. These genes are known as units of heredity, since the information contained within them is passed down from generation to generation. When a mutation in the gene occurs and it repeats itself once too often, problems will arise. Any change in the gene FMR1 will cause the body not to produce the right amount of protein that the brain needs, and the result can be Fragile X syndrome. Both boys and girls can be afflicted with Fragile X syndrome, however since the gene is part of the X chromosome and male genes have only one X chromosome, Fragile X syndrome affects boys more severely.

The symptoms and signs of Fragile X syndrome are not the same in everyone as there are milder and more severe cases. There are, however, certain symptoms that are common in all those suffering from Fragile X syndrome. The following is a partial list of the most common symptoms:

Physical – Most people with Fragile X syndrome will have longer faces, jaws and ears. Their joints may be a bit looser and more flexible, and they may be able to extend their elbows, knees and thumbs further out than people not affected by the syndrome.

Emotional – Most people with Fragile X syndrome will be emotionally challenged. Any new environment may make them feel anxious or afraid, and they will have problems relating to and playing with other children. Boys may be aggressive around new people, whereas girls may be very shy.

Language – Boys afflicted with Fragile X syndrome will have difficulty with speech and language. They may stutter and will not be able to speak clearly, uttering only half words. They will have difficulty comprehending body language or nuances that come with the change of the voice of the speaker.

Intelligence – Most people with Fragile X syndrome will be intellectually disabled. These disabilities can range from mild learning disabilities to acute IDDs.

Sensory– Many with Fragile X syndrome have difficulty tolerating loud noises or bright lights. Many of them do not like to be touched and avoid making eye contact with other people.

There is no known specific cure or treatment for Fragile X syndrome. The most important thing parents can do is provide education and training to help those children affected by Fragile X syndrome to attain higher levels of functionality. Since it is not a rare condition, there are many proven educational approaches and tests available.

Fragile X Syndrome: Selected full-text books and articles

Understanding Fragile X Syndrome By Orloff, Susan N. Schriber The Exceptional Parent, Vol. 38, No. 12, December 2008
Recent News about Fragile X: What's All the Fuss about? (Research Reflections) By Blacher, Jan The Exceptional Parent, Vol. 33, No. 4, April 2003
Handbook of Child Language Disorders By Richard G. Schwartz Psychology Press, 2009
Psychiatry: An Evidence Based Text By Basant Puri; Ian Treasaden Hodder Arnold, 2010
Meeting the Health Needs of People Who have a Learning Disability By Jeanette Thompson; Sharon Pickering Balliere Tindall, 2001
Librarian's tip: "Fragile X Syndrome" begins on p. 71
New Fragile X Often Misdiagnosed as Parkinson's By Kirn, Timothy F Clinical Psychiatry News, Vol. 32, No. 3, March 2004
Psychological Well-Being in Fathers of Adolescents and Young Adults with Down Syndrome, Fragile X Syndrome, and Autism By Hartley, Sigan L.; Seltzer, Marsha Mailick; Head, Lara; Abbeduto, Leonard Family Relations, Vol. 61, No. 2, April 2012
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